Table 2S. Characteristics of the Four Biobanks Used to Test the Mapping Tool
Biobank
International
Myeloma
Foundation’s
Bank on a Cure®
(University of
Minnesota Site)1
Characteristics
Determine genetic factors associated with Myeloma
Clinical patients (Myeloma), controls
Disease-specific, clinical trial & volunteer-based
Venous blood, buccal cells, tumor & non-tumor tissues (bone marrow)
Cells, DNA
SNPs
Targeted SNP analyses associated with disease risk and outcome *
Ancestry, physical traits, predictive/protective variants, VUS a
Determine genetic risk factors for Leukemia & eligibility for clinical trials
Eastern
Cooperative
Clinical patients (Leukemia), controls
Oncology Group
Disease-specific, clinical trial-based
(ECOG)
Venous blood, bone marrow
Leukemia
Cells, transformed cell lines (when possible)
2
Biobank
NAb
NA*
NA
Enable research and advocacy for genetic diseases (rare and common)
Genetic Alliance
Registry &
Clinical patients, controls
Biobank3
Multiple specific diseases and families of diseases
Venous blood, cord blood, plasma, PBMCsc, buccal cells, tumor & nontumor tissues from organ and/or whole-body autopsy harvest
Materials: Transformed cell lines, DNA,
Data: Karyotype, sequence, SNPs
Analyses: Karyotyping, sequencing, GWAS & linkage associated with disease risk*
Possible results: Karyotyping: Neutral, deletion/expansion (may be VUS)
Sequencing: Neutral, polymorphism, deleterious mutation, VUS
GWAS: Ancestry, physical traits, predictive/protective variants, VUS
Linkage: Evidence for linkage/Linkage excluded
4
NUgene Project
Purpose: Discover genetic mechanisms for common diseases
Population: The population of adult patients at University Medical Center
Scope: Common diseases
Samples: Venous blood
Materials: DNA
Data: SNPs, CNVs
Analyses: GWAS associated with disease risk*
Possible results: Ancestry, physical traits, predictive/protective variants, VUS
*
Note: Additional analyses are or may be performed by researchers outside the biobank. aVUS = Variant of unknown
Purpose:
Population:
Scope:
Samples:
Materials:
Data:
Analyses:
Possible results:
Purpose:
Population:
Scope:
Samples:
Materials:
Data:
Analyses:
Possible results:
Purpose:
Population:
Scope:
Samples:
significance, bNA = Not applicable, cPBMC = Peripheral blood mononuclear cell
1.
http://myeloma.org/
2.
http://ecog.dfci.harvard.edu/
3.
www.biobank.org
4.
www.nugene.org